Incidental Mutation 'IGL03346:Plcb3'
ID 417438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcb3
Ensembl Gene ENSMUSG00000024960
Gene Name phospholipase C, beta 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.585) question?
Stock # IGL03346
Quality Score
Status
Chromosome 19
Chromosomal Location 6953714-6969759 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6955052 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1080 (F1080L)
Ref Sequence ENSEMBL: ENSMUSP00000025912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025910] [ENSMUST00000025912] [ENSMUST00000113423] [ENSMUST00000113426]
AlphaFold P51432
Predicted Effect probably benign
Transcript: ENSMUST00000025910
SMART Domains Protein: ENSMUSP00000025910
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 43 204 5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025912
AA Change: F1080L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960
AA Change: F1080L

DomainStartEndE-ValueType
Pfam:EF-hand_like 225 316 6.6e-23 PFAM
PLCXc 317 468 4.26e-73 SMART
low complexity region 488 515 N/A INTRINSIC
low complexity region 553 578 N/A INTRINSIC
PLCYc 591 707 3.88e-76 SMART
C2 728 826 4.52e-14 SMART
low complexity region 917 936 N/A INTRINSIC
Pfam:PLC-beta_C 1029 1202 5.5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113423
SMART Domains Protein: ENSMUSP00000109050
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 162 9.1e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113426
SMART Domains Protein: ENSMUSP00000109053
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 43 172 5.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141410
SMART Domains Protein: ENSMUSP00000114597
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 134 2.9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145463
SMART Domains Protein: ENSMUSP00000121778
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 51 1.4e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for one targeted mutation die at E2.5 and exhibit poor embryonic organization and hypocellularity. Mice homozygous for a second targeted mutation survive to adulthood and exhibit an increased antinocieptive response to opioids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 C T 16: 29,314,604 V410M probably benign Het
Cdkn2aip G T 8: 47,713,618 D51E probably benign Het
Chd6 A G 2: 160,960,362 V2184A probably benign Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cldn23 G A 8: 35,825,440 probably benign Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Cog5 A T 12: 31,894,038 I641F possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Creg2 T G 1: 39,650,747 D65A probably damaging Het
Dennd4a A G 9: 64,888,526 R711G possibly damaging Het
Efr3b A G 12: 3,984,648 V58A probably damaging Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Gabrg1 A T 5: 70,778,131 Y227N possibly damaging Het
Gins3 A G 8: 95,643,275 I197V probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Gm8909 C A 17: 36,168,109 D83Y probably damaging Het
Gna15 T C 10: 81,503,045 Y320C probably damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Klf1 T C 8: 84,902,932 S129P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Nat8f5 A G 6: 85,817,658 S107P probably damaging Het
Olfr331 A G 11: 58,501,755 L267P possibly damaging Het
Olfr938 C A 9: 39,077,961 Q261H probably benign Het
Olfr938 T A 9: 39,077,962 Q261L probably damaging Het
Pcdhb18 G A 18: 37,489,621 M1I probably null Het
Polr2g T C 19: 8,798,305 H14R probably damaging Het
Rp1l1 A G 14: 64,029,440 D825G probably benign Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Slc25a54 T C 3: 109,085,730 probably benign Het
Smad9 C A 3: 54,789,215 Q234K probably benign Het
Tie1 T C 4: 118,472,828 Y1066C probably damaging Het
Traf1 T C 2: 34,948,472 E118G probably benign Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Uaca C A 9: 60,854,318 T204K probably damaging Het
Utrn A T 10: 12,525,352 Y154N probably benign Het
Virma A G 4: 11,518,984 T694A probably benign Het
Vmn2r50 T C 7: 10,046,002 D500G probably damaging Het
Vmn2r59 T A 7: 42,043,829 H449L probably benign Het
Other mutations in Plcb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Plcb3 APN 19 6955322 missense probably benign 0.27
IGL01370:Plcb3 APN 19 6962824 missense probably damaging 0.99
IGL01385:Plcb3 APN 19 6957908 missense probably benign
IGL01511:Plcb3 APN 19 6955843 missense probably damaging 0.99
IGL02182:Plcb3 APN 19 6969620 missense probably benign 0.22
IGL02240:Plcb3 APN 19 6958080 splice site probably benign
IGL02350:Plcb3 APN 19 6958178 missense probably damaging 1.00
IGL02357:Plcb3 APN 19 6958178 missense probably damaging 1.00
IGL02550:Plcb3 APN 19 6960176 nonsense probably null
IGL02866:Plcb3 APN 19 6957676 missense probably damaging 1.00
IGL03180:Plcb3 APN 19 6956153 missense probably benign 0.44
IGL03327:Plcb3 APN 19 6955052 missense probably benign
Multifarious UTSW 19 6954703 critical splice donor site probably null
R0042:Plcb3 UTSW 19 6966420 missense probably damaging 1.00
R0125:Plcb3 UTSW 19 6958908 missense probably damaging 1.00
R0240:Plcb3 UTSW 19 6962995 missense probably benign 0.16
R0240:Plcb3 UTSW 19 6962995 missense probably benign 0.16
R0724:Plcb3 UTSW 19 6963392 missense probably damaging 1.00
R0781:Plcb3 UTSW 19 6961913 nonsense probably null
R0945:Plcb3 UTSW 19 6954878 missense probably damaging 1.00
R1110:Plcb3 UTSW 19 6961913 nonsense probably null
R1414:Plcb3 UTSW 19 6963017 missense probably damaging 1.00
R1454:Plcb3 UTSW 19 6955046 missense possibly damaging 0.64
R1533:Plcb3 UTSW 19 6957673 missense possibly damaging 0.70
R1652:Plcb3 UTSW 19 6955296 missense probably benign 0.00
R1795:Plcb3 UTSW 19 6956013 unclassified probably benign
R1870:Plcb3 UTSW 19 6962985 missense probably benign 0.04
R1934:Plcb3 UTSW 19 6964609 missense probably damaging 1.00
R3980:Plcb3 UTSW 19 6966435 missense probably damaging 1.00
R4397:Plcb3 UTSW 19 6965825 missense probably damaging 0.96
R4533:Plcb3 UTSW 19 6956272 missense probably benign 0.08
R4576:Plcb3 UTSW 19 6959047 splice site probably benign
R4815:Plcb3 UTSW 19 6962984 missense possibly damaging 0.59
R4903:Plcb3 UTSW 19 6955843 missense probably damaging 0.99
R5093:Plcb3 UTSW 19 6966210 missense probably damaging 1.00
R5555:Plcb3 UTSW 19 6966219 missense probably benign 0.19
R5593:Plcb3 UTSW 19 6954749 missense possibly damaging 0.94
R5626:Plcb3 UTSW 19 6955275 missense probably benign 0.24
R5661:Plcb3 UTSW 19 6963220 missense probably damaging 1.00
R5713:Plcb3 UTSW 19 6957692 missense probably damaging 0.99
R5741:Plcb3 UTSW 19 6954422 nonsense probably null
R6025:Plcb3 UTSW 19 6956179 missense probably benign 0.03
R6063:Plcb3 UTSW 19 6962834 missense possibly damaging 0.69
R6155:Plcb3 UTSW 19 6966165 missense probably damaging 1.00
R6157:Plcb3 UTSW 19 6966165 missense probably damaging 1.00
R6178:Plcb3 UTSW 19 6954703 critical splice donor site probably null
R7085:Plcb3 UTSW 19 6960133 missense possibly damaging 0.80
R7117:Plcb3 UTSW 19 6964378 missense probably damaging 1.00
R7134:Plcb3 UTSW 19 6965330 missense probably damaging 1.00
R7153:Plcb3 UTSW 19 6958084 critical splice donor site probably null
R7316:Plcb3 UTSW 19 6966385 critical splice donor site probably null
R7366:Plcb3 UTSW 19 6962021 missense probably benign
R7399:Plcb3 UTSW 19 6962867 missense probably benign
R7736:Plcb3 UTSW 19 6969623 missense probably benign 0.00
R8057:Plcb3 UTSW 19 6955095 missense probably benign
R8057:Plcb3 UTSW 19 6958899 missense probably damaging 0.99
R8376:Plcb3 UTSW 19 6966703 missense probably damaging 0.99
R9103:Plcb3 UTSW 19 6958920 missense probably benign 0.06
R9292:Plcb3 UTSW 19 6964674 missense probably damaging 1.00
R9366:Plcb3 UTSW 19 6960290 critical splice donor site probably null
Posted On 2016-08-02